A new mutation in steroidogenic acute regulatory protein (StAR) is segregated in an Iranian family

Abstract

Lipoid congenital adrenal hyperplasia (LCAH) is the most fatal form of defects in steroid hormone biosynthesis presented with in 46,XY sex reversal and severe fatal salt-losing crisis in the infancy. The disease is caused by mutation in the steroidogenic acute regulatory protein (StAR) coding gene. Several mutations have been found in this gene in different populations with the possible existence of a founder effect. In the current study, we present a novel mutation in an Iranian infant with clinical manifestation of LCAH who was undiagnosed and died at the age of 4 months. Whole exome sequencing of her father showed a heterozygous mutation in StAR gene (c.73C > T, p.Q25X). The existence of homozygous mutation was confirmed in the demised child through Sanger sequencing. The present work adds to the repository of StAR mutations and implies the presence of different mutation spectrum in Iranian population.